Familial cold autoinflammatory syndrome 2

Preferred Label : Familial cold autoinflammatory syndrome 2;

Symbol : FCAS2;

CISMeF acronym : FCAS2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the NLR family, pyrin-domain containing 12 gene (NLRP12, 609648.0001);

Laboratory abnormalities : Increased acute phase reactants; Erythrocyte sedimentation rate may be increased; Serum C-reactive protein may be increased;

Prefixed ID : #611762;

Détails

Origin ID

611762;

UMLS CUI

C2673198;

Broader ORDO disease(s)
- Familial cold urticaria [ORDO Disease]
Currated CISMeF NLP mapping
- NALP12-Associated Hereditary Periodic Fever Syndrome [NCIt concept]
- NLR family pyrin domain containing 12-associated hereditary periodic fever syndrome (disorder) [SNOMED CT concept]
- NLRP12-associated hereditary periodic fever syndrome [ORDO Disease]
- familial cold autoinflammatory syndrome 2 [DO Concept]
- familial cold autoinflammatory syndrome 2 [MeSH concept]
- familial cold autoinflammatory syndrome 2 [MeSH Supplementary Concept]
DO Cross reference
- familial cold autoinflammatory syndrome 2 [DO Concept]
Genes related to phenotype
- Nlr family, pyrin domain-containing 12 [OMIM gene]
HPO term(s)
- Abdominal pain [HPO term]
- Arthralgia [HPO term]
- Arthritis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Elevated circulating C-reactive protein concentration [HPO term]
- Elevated erythrocyte sedimentation rate [HPO term]
- Erythema nodosum [HPO term]
- Headache [HPO term]
- Incomplete penetrance [HPO term]
- Leukocytosis [HPO term]
- Lower limb pain [HPO term]
- Lymphadenopathy [HPO term]
- Myalgia [HPO term]
- Pharyngalgia [HPO term]
- Recurrent aphthous stomatitis [HPO term]
- Recurrent fever [HPO term]
- Sensorineural hearing impairment [HPO term]
- Skin rash [HPO term]
- Splenomegaly [HPO term]
- Urticaria [HPO term]
ORDO concept(s)
- NLRP12-associated hereditary periodic fever syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- NALP12-Associated Hereditary Periodic Fever Syndrome [NCIt concept]
- NLR family pyrin domain containing 12-associated hereditary periodic fever syndrome (disorder) [SNOMED CT concept]
- NLRP12-associated hereditary periodic fever syndrome [ORDO Disease]
- familial cold autoinflammatory syndrome 2 [MeSH Supplementary Concept]
- familial cold autoinflammatory syndrome 2 [MeSH concept]
- familial cold autoinflammatory syndrome 2 [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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